Canonical Allele Identifier: CA2683720385

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517727-G-GAAACAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517727_92517728insAAACAAA , CM000669.2:g.92517727_92517728insAAACAAA	GRCh38
NC_000007.13:g.92147041_92147042insAAACAAA , CM000669.1:g.92147041_92147042insAAACAAA	GRCh37
NC_000007.12:g.91984977_91984978insAAACAAA	NCBI36
NG_008341.1:g.15804_15805insTTTGTTT
NG_008341.2:g.15804_15805insTTTGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.787_788insTTTGTTT MANE Select	ENSP00000248633.4:p.Thr263IlefsTer9
ENST00000248633.8:c.787_788insTTTGTTT	ENSP00000248633.4:p.Thr263IlefsTer9
ENST00000428214.5:c.787_788insTTTGTTT	ENSP00000394413.1:p.Thr263IlefsTer9
ENST00000438045.5:c.274-3761_274-3760insTTTGTTT	ENSP00000410438.1:n.274-3761_274-3760insTTTGTTT
ENST00000484913.5:n.826_827insTTTGTTT
NM_000466.2:c.787_788insTTTGTTT	NP_000457.1:p.Thr263IlefsTer9
NM_001282677.1:c.787_788insTTTGTTT	NP_001269606.1:p.Thr263IlefsTer9
NM_001282678.1:c.163_164insTTTGTTT	NP_001269607.1:p.Thr55IlefsTer9
XR_242246.3:n.883_884insTTTGTTT
XR_242246.5:n.834_835insTTTGTTT
NM_000466.3:c.787_788insTTTGTTT MANE Select	NP_000457.1:p.Thr263IlefsTer9
NM_001282677.2:c.787_788insTTTGTTT	NP_001269606.1:p.Thr263IlefsTer9
NM_001282678.2:c.163_164insTTTGTTT	NP_001269607.1:p.Thr55IlefsTer9